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CTGA Database Listing
Arab Genomic Studies
Records found: 2616 Sort by:
  • Charcot-Marie-Tooth Disease, Type 4H
    OMIM # 609311
    CMT4H, Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H, Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H, Charcot-Marie-Tooth Neuropathy, Type 4H
  • Mitochondrial Complex III Deficiency, Nuclear Type 7
    OMIM # 615824
    MC3DN7,
  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2
    OMIM # 614461
    UQCC2,
  • Knobloch Syndrome 1
    OMIM # 267750
    KNO1, KNO, Retinal Detachment and Occipital Encephalocele
  • Retinitis Pigmentosa
    OMIM # 268000
    RP
  • Retinopathy, Pigmentary, and Mental Retardation
    OMIM # 268050
    Mirhosseini-Holmes-Walton Syndrome,
  • Enhanced S-Cone Syndrome
    OMIM # 268100
    ESCS, Goldmann-Favre Syndrome, Retinoschisis with Early Hemeralopia, Favre Hyaloideoretinal Degeneration
  • Revesz Syndrome
    OMIM # 268130
    Exudative Retinopathy with Bone Marrow Failure, Revesz Debuse Syndrome, Bilateral Coats Retinopathy Associated with Aplastic Anaemia and Mild Dyskeratotic Signs, Retinopathy Anemia CNS Anomalies,
  • Myoglobinuria, Acute Recurrent, Autosomal Recessive
    OMIM # 268200
    Myoglobinuria, Familial Paroxysmal Paralytic, Rhabdomyolysis, Acute Recurrent
  • Rhabdomyosarcoma 1
    OMIM # 268210
    RMS1, Rhabdomyosarcoma, Embryonal, 1, RMSE1, Rhabdomyosarcoma Chromosomal Region, RMSCR
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